Marti, 2008: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
n.a.
n.a.
48
73
n.a.
Cerebellar atrophy
Dysarthria
Gait ataxia
Nystagmus (interictal)
Ataxia, limb
Ataxia
Nystagmus
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n.a.
Yes
♀
n.a.
n.a.
30
39
n.a.
Hemiplegia
Nystagmus (interictal)
Muscle weakness
Ataxia, limb
Cerebellar atrophy
Nystagmus
-Gait ataxia (interictal)
Ataxia
Ataxia (ictal)
Dysarthria
-Gait ataxia (ictal)
-Limb ataxia (interictal)
Gait ataxia
Vertigo
Vertigo (ictal)
-Muscle weakness (ictal)
Migraine
Headache
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n.a.